ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.8130G>A (p.Trp2710Ter)

dbSNP: rs121909518
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001052798 SCV001217024 pathogenic Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2022-12-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp2710*) in the FLNC gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 16 amino acid(s) of the FLNC protein. For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this premature translational stop signal affects FLNC function (PMID: 22961544, 26472074, 26969713). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. ClinVar contains an entry for this variant (Variation ID: 18314). This premature translational stop signal has been observed in individual(s) with filaminopathy (PMID: 15929027, 22961544). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency).
CeGaT Center for Human Genetics Tuebingen RCV001091493 SCV001247569 pathogenic not provided 2021-03-01 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001091493 SCV002023742 pathogenic not provided 2019-08-08 criteria provided, single submitter clinical testing
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV000019978 SCV002522316 pathogenic Myofibrillar myopathy 5 2022-06-02 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV000019978 SCV003804688 pathogenic Myofibrillar myopathy 5 2023-01-06 criteria provided, single submitter clinical testing _x000D_ Criteria applied: PS3, PP1_STR, PVS1_MOD, PM2_SUP
OMIM RCV000019978 SCV000040276 pathogenic Myofibrillar myopathy 5 2007-06-01 no assertion criteria provided literature only

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